CDC5L (cell division cycle 5 like) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: CDC5L (cell division cycle 5 like) Homo sapiens
Analyze
Symbol: CDC5L
Name: cell division cycle 5 like
RGD ID: 731949
HGNC Page HGNC:1743
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; WD40-repeat domain binding activity; and identical protein binding activity. Involved in DNA damage checkpoint signaling; mRNA splicing, via spliceosome; and positive regulation of transcription by RNA polymerase II. Located in DNA replication factor A complex and nuclear speck. Part of Prp19 complex; U2-type catalytic step 2 spliceosome; and cytoplasm. Implicated in osteosarcoma. Biomarker of esophagus adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDC5; CDC5 (cell division cycle 5, S. pombe, homolog)-like; CDC5 cell division cycle 5-like; CDC5-LIKE; Cdc5-related protein; CEF1; Cell division cycle 5, S. pombe, homolog-like; cell division cycle 5-like (s. pombe); cell division cycle 5-like protein; dJ319D22.1; dJ319D22.1 (CDC5-like protein); hCDC5; KIAA0432; PCDC5RP; pombe cdc5-related protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38644,387,706 - 44,450,425 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl644,387,565 - 44,450,425 (+)Ensemblhg38GRCh38
GRCh37644,355,443 - 44,418,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36644,463,280 - 44,522,758 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34644,463,279 - 44,522,757NCBI
Celera645,908,480 - 45,967,835 (+)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef644,077,869 - 44,140,670 (+)NCBIHuRef
CHM1_1644,358,890 - 44,421,686 (+)NCBICHM1_1
T2T-CHM13v2.0644,222,452 - 44,285,059 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol AF  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
Butylbenzyl phthalate  (ISO)
caffeine  (EXP)
chlorpyrifos  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
deoxynivalenol  (EXP)
dicrotophos  (EXP)
dimethylarsinic acid  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
enzyme inhibitor  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hydrogen peroxide  (EXP,ISO)
inulin  (ISO)
ivermectin  (EXP)
methyl methanesulfonate  (EXP)
motexafin gadolinium  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
nimesulide  (ISO)
nitrates  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP)
parathion  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP)
SB 431542  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thiram  (EXP)
trichostatin A  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
wortmannin  (ISO)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Molecular profiling of mouse lung tumors: association with tumor progression, lung development, and human lung adenocarcinomas. Bonner AE, etal., Oncogene. 2004 Feb 5;23(5):1166-76.
2. Splicing and beyond: the many faces of the Prp19 complex. Chanarat S and Strasser K, Biochim Biophys Acta. 2013 Oct;1833(10):2126-34. doi: 10.1016/j.bbamcr.2013.05.023. Epub 2013 Jun 3.
3. CDC2/CDK1 expression in esophageal adenocarcinoma and precursor lesions serves as a diagnostic and cancer progression marker and potential novel drug target. Hansel DE, etal., Am J Surg Pathol. 2005 Mar;29(3):390-9.
4. Cell cycle regulator gene CDC5L, a potential target for 6p12-p21 amplicon in osteosarcoma. Lu XY, etal., Mol Cancer Res. 2008 Jun;6(6):937-46. doi: 10.1158/1541-7786.MCR-07-2115.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8917598   PMID:9038199   PMID:9455477   PMID:9468527   PMID:9598309   PMID:9632794   PMID:9731529   PMID:10570151   PMID:10827081   PMID:11082045   PMID:11101529   PMID:11329013  
PMID:11544257   PMID:11991638   PMID:12168954   PMID:12477932   PMID:12840015   PMID:12927788   PMID:14515018   PMID:14574404   PMID:14576297   PMID:14702039   PMID:14729942   PMID:15232106  
PMID:15324660   PMID:15489334   PMID:15660529   PMID:15840729   PMID:16159877   PMID:16216881   PMID:16223718   PMID:16332694   PMID:16341674   PMID:17043677   PMID:17081983   PMID:17148452  
PMID:17276391   PMID:17332742   PMID:17353931   PMID:18029348   PMID:18330920   PMID:18583928   PMID:18722174   PMID:19240061   PMID:19274049   PMID:19454010   PMID:19633697   PMID:19641227  
PMID:19946888   PMID:20020773   PMID:20176811   PMID:20211142   PMID:20360068   PMID:20467437   PMID:20508642   PMID:20595234   PMID:21036905   PMID:21081503   PMID:21081666   PMID:21145461  
PMID:21385873   PMID:21536736   PMID:21639856   PMID:21873635   PMID:21907836   PMID:21988832   PMID:22174317   PMID:22365833   PMID:22446626   PMID:22681889   PMID:22751105   PMID:22763110  
PMID:22939629   PMID:22940584   PMID:22941190   PMID:22944692   PMID:22990118   PMID:23022480   PMID:23084401   PMID:23125841   PMID:23455922   PMID:24269683   PMID:24332808   PMID:24457600  
PMID:24550385   PMID:24591637   PMID:24598747   PMID:24675469   PMID:24711643   PMID:24755837   PMID:24778252   PMID:25064007   PMID:25192599   PMID:25315684   PMID:25416956   PMID:25452129  
PMID:25798074   PMID:25921289   PMID:25948554   PMID:26130721   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26414014   PMID:26490980   PMID:26496610   PMID:26511642   PMID:26553251  
PMID:26641092   PMID:26687479   PMID:26777405   PMID:26831064   PMID:26979993   PMID:27025967   PMID:27049334   PMID:27248496   PMID:27591049   PMID:27634302   PMID:27684187   PMID:27880917  
PMID:28076346   PMID:28242625   PMID:28302793   PMID:28387715   PMID:28431233   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28666352   PMID:28675297   PMID:28977666  
PMID:29229926   PMID:29298432   PMID:29331416   PMID:29365100   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29773831   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29871935  
PMID:29884807   PMID:29991511   PMID:30021884   PMID:30209976   PMID:30320910   PMID:30404004   PMID:30415952   PMID:30462309   PMID:30463901   PMID:30804502   PMID:30833792   PMID:30884312  
PMID:30890647   PMID:30940648   PMID:30948266   PMID:31048545   PMID:31076518   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31413325   PMID:31478661   PMID:31553912   PMID:31586073  
PMID:31665637   PMID:31822558   PMID:31839598   PMID:31980649   PMID:32041737   PMID:32051553   PMID:32129710   PMID:32296183   PMID:32416067   PMID:32460013   PMID:32526706   PMID:32572027  
PMID:32707033   PMID:32780723   PMID:32807901   PMID:32814053   PMID:32850835   PMID:32994395   PMID:33111431   PMID:33239621   PMID:33301849   PMID:33306668   PMID:33361760   PMID:33536335  
PMID:33731348   PMID:33742100   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34298017   PMID:34349018   PMID:34373451   PMID:34597346   PMID:34650049   PMID:34672954  
PMID:34728620   PMID:34784299   PMID:34795231   PMID:34903139   PMID:35013218   PMID:35182466   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35785414  
PMID:35819319   PMID:35831314   PMID:35850772   PMID:35915203   PMID:35944360   PMID:35973513   PMID:35987950   PMID:36114006   PMID:36215168   PMID:36243803   PMID:36373674   PMID:36424410  
PMID:36526897   PMID:36574265   PMID:36779763   PMID:36841324   PMID:36929488   PMID:37001908   PMID:37071682   PMID:37314180   PMID:37317656   PMID:37528093   PMID:37536630   PMID:37616343  
PMID:37689310   PMID:37723588   PMID:37827155   PMID:38113892   PMID:38280479   PMID:38334954   PMID:38697112   PMID:39066279   PMID:39251607   PMID:39358380   PMID:39501047   PMID:39522233  
PMID:39664081   PMID:40355756   PMID:40437099  


Genomics

Comparative Map Data
CDC5L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38644,387,706 - 44,450,425 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl644,387,565 - 44,450,425 (+)Ensemblhg38GRCh38
GRCh37644,355,443 - 44,418,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36644,463,280 - 44,522,758 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34644,463,279 - 44,522,757NCBI
Celera645,908,480 - 45,967,835 (+)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef644,077,869 - 44,140,670 (+)NCBIHuRef
CHM1_1644,358,890 - 44,421,686 (+)NCBICHM1_1
T2T-CHM13v2.0644,222,452 - 44,285,059 (+)NCBIT2T-CHM13v2.0
Cdc5l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391745,702,809 - 45,744,633 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1745,702,810 - 45,744,663 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381745,391,887 - 45,433,707 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1745,391,884 - 45,433,737 (-)Ensemblmm10GRCm38
MGSCv371745,528,836 - 45,570,656 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361744,855,468 - 44,897,288 (-)NCBIMGSCv36mm8
Celera1748,822,530 - 48,866,019 (-)NCBICelera
Cytogenetic Map17B3NCBI
cM Map1722.36NCBI
Cdc5l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8923,062,397 - 23,100,901 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl923,062,205 - 23,100,899 (+)EnsemblGRCr8
mRatBN7.2915,564,949 - 15,603,453 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl915,564,767 - 15,603,450 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx924,151,506 - 24,189,633 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0929,214,190 - 29,252,317 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0927,514,951 - 27,553,079 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0917,949,764 - 17,988,514 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl917,949,764 - 17,988,509 (+)Ensemblrn6Rnor6.0
Rnor_5.0916,838,171 - 16,876,921 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4911,165,631 - 11,204,135 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera913,308,462 - 13,346,957 (+)NCBICelera
RGSC_v3.1911,162,952 - 11,201,455 (+)NCBI
Cytogenetic Map9q12NCBI
Cdc5l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554379,990,613 - 10,032,034 (+)Ensembl
ChiLan1.0NW_0049554379,990,613 - 10,032,034 (+)NCBIChiLan1.0ChiLan1.0
CDC5L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2558,891,113 - 58,955,556 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1654,761,126 - 54,821,533 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0643,983,840 - 44,043,029 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1645,265,845 - 45,326,392 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl645,265,845 - 45,326,383 (+)EnsemblpanPan2panpan1.1
CDC5L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11212,779,936 - 12,822,978 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1212,780,010 - 12,822,801 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1212,807,973 - 12,851,031 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01213,266,108 - 13,309,161 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1213,266,132 - 13,309,158 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11212,791,651 - 12,835,010 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01212,879,429 - 12,922,495 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01212,973,455 - 13,016,504 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Cdc5l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494648,262,000 - 48,311,662 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647615,648,678 - 15,698,106 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647615,647,470 - 15,698,095 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDC5L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl739,384,556 - 39,431,248 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1739,384,397 - 39,427,729 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2745,306,065 - 45,349,669 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDC5L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11727,727,185 - 27,785,233 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1727,722,819 - 27,785,268 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604444,437,105 - 44,495,930 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdc5l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475415,477,193 - 15,517,636 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462475415,477,188 - 15,517,656 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Cdc5l
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1484,454,349 - 84,491,979 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in CDC5L
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 copy number loss See cases [RCV000051011] Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1		 pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1		 pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3		 pathogenic
NM_001253.3(CDC5L):c.1321A>G (p.Arg441Gly) single nucleotide variant Malignant melanoma [RCV000067386] Chr6:44422726 [GRCh38]
Chr6:44390463 [GRCh37]
Chr6:44498441 [NCBI36]
Chr6:6p21.1		 not provided
NM_001253.3(CDC5L):c.1416C>T (p.Ser472=) single nucleotide variant Malignant melanoma [RCV000061443] Chr6:44424430 [GRCh38]
Chr6:44392167 [GRCh37]
Chr6:44500145 [NCBI36]
Chr6:6p21.1		 not provided
NM_001253.4(CDC5L):c.424A>G (p.Ile142Val) single nucleotide variant not specified [RCV004253385] Chr6:44393558 [GRCh38]
Chr6:44361295 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
NM_001253.4(CDC5L):c.650A>C (p.Glu217Ala) single nucleotide variant not specified [RCV004261114] Chr6:44403919 [GRCh38]
Chr6:44371656 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1562G>A (p.Arg521Gln) single nucleotide variant not specified [RCV004250187] Chr6:44424576 [GRCh38]
Chr6:44392313 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)x1 copy number loss See cases [RCV000446897] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3		 pathogenic
NM_001253.4(CDC5L):c.1802A>G (p.Lys601Arg) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV000416577] Chr6:44426633 [GRCh38]
Chr6:44394370 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_001253.4(CDC5L):c.2248C>T (p.Arg750Cys) single nucleotide variant not specified [RCV004311445] Chr6:44445811 [GRCh38]
Chr6:44413548 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.698A>G (p.Gln233Arg) single nucleotide variant not provided [RCV000678307] Chr6:44403967 [GRCh38]
Chr6:44371704 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_001253.4(CDC5L):c.311+115A>G single nucleotide variant not provided [RCV001691222] Chr6:44392943 [GRCh38]
Chr6:44360680 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1241+256C>A single nucleotide variant not provided [RCV001612583] Chr6:44419853 [GRCh38]
Chr6:44387590 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1854T>C (p.His618=) single nucleotide variant not provided [RCV000970145] Chr6:44426685 [GRCh38]
Chr6:44394422 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.2014C>T (p.Pro672Ser) single nucleotide variant not provided [RCV000782186] Chr6:44429833 [GRCh38]
Chr6:44397570 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_001253.4(CDC5L):c.929T>C (p.Val310Ala) single nucleotide variant CDC5L-related disorder [RCV003923257]|not provided [RCV000918466] Chr6:44408469 [GRCh38]
Chr6:44376206 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.586A>T (p.Ile196Leu) single nucleotide variant not specified [RCV004285903] Chr6:44403855 [GRCh38]
Chr6:44371592 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.46-121T>G single nucleotide variant not provided [RCV001637333] Chr6:44390147 [GRCh38]
Chr6:44357884 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.45+77G>A single nucleotide variant not provided [RCV001643287] Chr6:44387945 [GRCh38]
Chr6:44355682 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.2163T>A (p.Leu721=) single nucleotide variant not provided [RCV001594676] Chr6:44445726 [GRCh38]
Chr6:44413463 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1587G>T (p.Glu529Asp) single nucleotide variant not specified [RCV004301097] Chr6:44426120 [GRCh38]
Chr6:44393857 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.903+263A>G single nucleotide variant not provided [RCV001541051] Chr6:44406730 [GRCh38]
Chr6:44374467 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1569+194G>A single nucleotide variant not provided [RCV001596164] Chr6:44424777 [GRCh38]
Chr6:44392514 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.438G>A (p.Glu146=) single nucleotide variant not provided [RCV003312651] Chr6:44393572 [GRCh38]
Chr6:44361309 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.759-4A>G single nucleotide variant not provided [RCV003312652] Chr6:44406319 [GRCh38]
Chr6:44374056 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.903+304G>A single nucleotide variant not provided [RCV001640971] Chr6:44406771 [GRCh38]
Chr6:44374508 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.2091+235T>C single nucleotide variant not provided [RCV001595840] Chr6:44430145 [GRCh38]
Chr6:44397882 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.45+94T>C single nucleotide variant not provided [RCV001684854] Chr6:44387962 [GRCh38]
Chr6:44355699 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.150-249T>A single nucleotide variant not provided [RCV001685036] Chr6:44392418 [GRCh38]
Chr6:44360155 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.3(CDC5L):c.-138C>T single nucleotide variant not provided [RCV001667955] Chr6:44387686 [GRCh38]
Chr6:44355423 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1894-169G>C single nucleotide variant not provided [RCV001647690] Chr6:44429544 [GRCh38]
Chr6:44397281 [GRCh37]
Chr6:6p21.1		 benign
NC_000006.12:g.44387491A>C single nucleotide variant not provided [RCV001691267] Chr6:44387491 [GRCh38]
Chr6:44355228 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1570-205G>A single nucleotide variant not provided [RCV001691078] Chr6:44425898 [GRCh38]
Chr6:44393635 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1404+218G>T single nucleotide variant not provided [RCV001648279] Chr6:44423027 [GRCh38]
Chr6:44390764 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.279G>A (p.Ala93=) single nucleotide variant not provided [RCV001696132] Chr6:44392796 [GRCh38]
Chr6:44360533 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.149+336T>G single nucleotide variant not provided [RCV001682386] Chr6:44390707 [GRCh38]
Chr6:44358444 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.2304+132A>G single nucleotide variant not provided [RCV001614865] Chr6:44445999 [GRCh38]
Chr6:44413736 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1241+183C>G single nucleotide variant not provided [RCV001670998] Chr6:44419780 [GRCh38]
Chr6:44387517 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.3(CDC5L):c.-162G>T single nucleotide variant not provided [RCV001691620] Chr6:44387662 [GRCh38]
Chr6:44355399 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1405-140A>C single nucleotide variant not provided [RCV001616718] Chr6:44424279 [GRCh38]
Chr6:44392016 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.708C>T (p.Asp236=) single nucleotide variant not provided [RCV001614258] Chr6:44403977 [GRCh38]
Chr6:44371714 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.904-262T>C single nucleotide variant not provided [RCV001708887] Chr6:44408182 [GRCh38]
Chr6:44375919 [GRCh37]
Chr6:6p21.1		 benign
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320) copy number loss not specified [RCV002053568] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3		 pathogenic
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NM_001253.4(CDC5L):c.2180G>A (p.Arg727His) single nucleotide variant not specified [RCV004159629] Chr6:44445743 [GRCh38]
Chr6:44413480 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.605G>C (p.Arg202Thr) single nucleotide variant not specified [RCV004170792] Chr6:44403874 [GRCh38]
Chr6:44371611 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.211C>G (p.Leu71Val) single nucleotide variant not specified [RCV004239123] Chr6:44392728 [GRCh38]
Chr6:44360465 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.2249G>A (p.Arg750His) single nucleotide variant not specified [RCV004224404] Chr6:44445812 [GRCh38]
Chr6:44413549 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.775G>A (p.Asp259Asn) single nucleotide variant not specified [RCV004149193] Chr6:44406339 [GRCh38]
Chr6:44374076 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.2236C>T (p.His746Tyr) single nucleotide variant not specified [RCV004236412] Chr6:44445799 [GRCh38]
Chr6:44413536 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.605G>A (p.Arg202Lys) single nucleotide variant not specified [RCV004099646] Chr6:44403874 [GRCh38]
Chr6:44371611 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1316C>T (p.Pro439Leu) single nucleotide variant not specified [RCV004236733] Chr6:44422721 [GRCh38]
Chr6:44390458 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1334G>C (p.Arg445Pro) single nucleotide variant not specified [RCV004150166] Chr6:44422739 [GRCh38]
Chr6:44390476 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.445C>T (p.Leu149Phe) single nucleotide variant not specified [RCV004105066] Chr6:44396346 [GRCh38]
Chr6:44364083 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1946A>T (p.His649Leu) single nucleotide variant not specified [RCV004120459] Chr6:44429765 [GRCh38]
Chr6:44397502 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.2225T>C (p.Ile742Thr) single nucleotide variant not specified [RCV004211175] Chr6:44445788 [GRCh38]
Chr6:44413525 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1025A>G (p.Asn342Ser) single nucleotide variant not specified [RCV004217361] Chr6:44408565 [GRCh38]
Chr6:44376302 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.147A>G (p.Arg49=) single nucleotide variant CDC5L-related disorder [RCV003427763] Chr6:44390369 [GRCh38]
Chr6:44358106 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1277G>A (p.Arg426Gln) single nucleotide variant CDC5L-related disorder [RCV003412222] Chr6:44422682 [GRCh38]
Chr6:44390419 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1745T>G (p.Met582Arg) single nucleotide variant CDC5L-related disorder [RCV003397564] Chr6:44426576 [GRCh38]
Chr6:44394313 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3 copy number gain not specified [RCV003986637] Chr6:44185578..44552951 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1548T>C (p.Ala516=) single nucleotide variant CDC5L-related disorder [RCV003896765] Chr6:44424562 [GRCh38]
Chr6:44392299 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.1376A>G (p.Tyr459Cys) single nucleotide variant CDC5L-related disorder [RCV003927338] Chr6:44422781 [GRCh38]
Chr6:44390518 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.-2A>G single nucleotide variant CDC5L-related disorder [RCV003914756] Chr6:44387822 [GRCh38]
Chr6:44355559 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.66G>A (p.Ala22=) single nucleotide variant CDC5L-related disorder [RCV003937137] Chr6:44390288 [GRCh38]
Chr6:44358025 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.2160G>C (p.Leu720Phe) single nucleotide variant CDC5L-related disorder [RCV003942120] Chr6:44445723 [GRCh38]
Chr6:44413460 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.904-10G>A single nucleotide variant CDC5L-related disorder [RCV003914236] Chr6:44408434 [GRCh38]
Chr6:44376171 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.1140A>G (p.Lys380=) single nucleotide variant CDC5L-related disorder [RCV003956772] Chr6:44419496 [GRCh38]
Chr6:44387233 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.526T>C (p.Leu176=) single nucleotide variant CDC5L-related disorder [RCV003937324] Chr6:44396427 [GRCh38]
Chr6:44364164 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.-7C>T single nucleotide variant CDC5L-related disorder [RCV003909442] Chr6:44387817 [GRCh38]
Chr6:44355554 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.237A>G (p.Pro79=) single nucleotide variant CDC5L-related disorder [RCV003897091] Chr6:44392754 [GRCh38]
Chr6:44360491 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.915A>G (p.Ala305=) single nucleotide variant CDC5L-related disorder [RCV003926774] Chr6:44408455 [GRCh38]
Chr6:44376192 [GRCh37]
Chr6:6p21.1		 benign
NM_001253.4(CDC5L):c.1500G>A (p.Lys500=) single nucleotide variant CDC5L-related disorder [RCV003934262] Chr6:44424514 [GRCh38]
Chr6:44392251 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.1374C>G (p.Asp458Glu) single nucleotide variant not specified [RCV004435841] Chr6:44422779 [GRCh38]
Chr6:44390516 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1853A>C (p.His618Pro) single nucleotide variant not specified [RCV004435842] Chr6:44426684 [GRCh38]
Chr6:44394421 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.2110A>G (p.Thr704Ala) single nucleotide variant not specified [RCV004606729] Chr6:44445673 [GRCh38]
Chr6:44413410 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.2042A>G (p.Asn681Ser) single nucleotide variant not specified [RCV004606730] Chr6:44429861 [GRCh38]
Chr6:44397598 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1688C>T (p.Pro563Leu) single nucleotide variant CDC5L-related disorder [RCV004750971]|not specified [RCV004609967] Chr6:44426519 [GRCh38]
Chr6:44394256 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.2026C>T (p.Arg676Cys) single nucleotide variant not specified [RCV004606732] Chr6:44429845 [GRCh38]
Chr6:44397582 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1588C>G (p.Arg530Gly) single nucleotide variant not specified [RCV004606731] Chr6:44426121 [GRCh38]
Chr6:44393858 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.396A>G (p.Pro132=) single nucleotide variant CDC5L-related disorder [RCV004752230] Chr6:44393530 [GRCh38]
Chr6:44361267 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.2066T>C (p.Ile689Thr) single nucleotide variant not specified [RCV004901415] Chr6:44429885 [GRCh38]
Chr6:44397622 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.713A>G (p.Asp238Gly) single nucleotide variant not specified [RCV004901416] Chr6:44403982 [GRCh38]
Chr6:44371719 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1369G>A (p.Ala457Thr) single nucleotide variant not specified [RCV004901408] Chr6:44422774 [GRCh38]
Chr6:44390511 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.2185A>G (p.Met729Val) single nucleotide variant not specified [RCV004901411] Chr6:44445748 [GRCh38]
Chr6:44413485 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1189C>T (p.Pro397Ser) single nucleotide variant not specified [RCV004901412] Chr6:44419545 [GRCh38]
Chr6:44387282 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.2050A>G (p.Ser684Gly) single nucleotide variant not specified [RCV004901407] Chr6:44429869 [GRCh38]
Chr6:44397606 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1607G>A (p.Arg536Gln) single nucleotide variant not specified [RCV004901409] Chr6:44426140 [GRCh38]
Chr6:44393877 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1535T>C (p.Ile512Thr) single nucleotide variant not specified [RCV004901410] Chr6:44424549 [GRCh38]
Chr6:44392286 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.802A>G (p.Lys268Glu) single nucleotide variant not specified [RCV005308114] Chr6:44406366 [GRCh38]
Chr6:44374103 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.299A>G (p.Tyr100Cys) single nucleotide variant not specified [RCV005308111] Chr6:44392816 [GRCh38]
Chr6:44360553 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_001253.4(CDC5L):c.1494C>T (p.Ala498=) single nucleotide variant not specified [RCV005308113] Chr6:44424508 [GRCh38]
Chr6:44392245 [GRCh37]
Chr6:6p21.1		 likely benign
NM_001253.4(CDC5L):c.1109T>C (p.Met370Thr) single nucleotide variant not specified [RCV005308115] Chr6:44419465 [GRCh38]
Chr6:44387202 [GRCh37]
Chr6:6p21.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1303
Count of miRNA genes:790
Interacting mature miRNAs:928
Transcripts:ENST00000371477
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
598094499GWAS1811892_Hvascular endothelial growth factor A amount QTL GWAS1811892 (human)0.0000004vascular endothelial growth factor A amount64443230544432306Human
597313404GWAS1409478_Hlanguage measurement QTL GWAS1409478 (human)0.000008language measurement64439549344395494Human
597020659GWAS1116733_HIschemic stroke QTL GWAS1116733 (human)0.000001Ischemic stroke64444834044448341Human
628364060GWAS2284904_Hvascular endothelial growth factor A level QTL GWAS2284904 (human)0.0000004vascular endothelial growth factor A level64443230544432306Human
406902795GWAS551771_Hbody height QTL GWAS551771 (human)0.000009body height64439363144393632Human
407003273GWAS652249_Hvascular endothelial growth factor measurement QTL GWAS652249 (human)0.0000004vascular endothelial growth factor measurement64443230544432306Human
597021155GWAS1117229_Hvascular endothelial growth factor measurement QTL GWAS1117229 (human)0.0000004vascular endothelial growth factor measurement64443230544432306Human
597496523GWAS1592597_Hhip geometry QTL GWAS1592597 (human)3e-12body size trait (VT:0100005)hip circumference (CMO:0000014)64443917144439172Human
597990268GWAS1709567_Hbody height QTL GWAS1709567 (human)0.000009body height64439363144393632Human
628549967GWAS2458196_Hlanguage measurement QTL GWAS2458196 (human)0.000008language measurement64439549344395494Human
406949434GWAS598410_HIschemic stroke QTL GWAS598410 (human)0.000001Ischemic stroke64444834044448341Human
597068170GWAS1164244_Hbody height QTL GWAS1164244 (human)0.000009body height64439363144393632Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
407185562GWAS834538_Hlanguage measurement QTL GWAS834538 (human)0.000008language measurement64439549344395494Human
597979547GWAS1698846_Hobsolete_vascular endothelial growth factor measurement QTL GWAS1698846 (human)0.0000004obsolete_vascular endothelial growth factor measurement64443230544432306Human

Markers in Region
STS-R38882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,609 - 44,414,757UniSTSGRCh37
Build 36644,522,587 - 44,522,735RGDNCBI36
Celera645,967,664 - 45,967,812RGD
Cytogenetic Map6p21UniSTS
HuRef644,137,118 - 44,137,266UniSTS
GeneMap99-GB4 RH Map6172.14UniSTS
WI-19876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,484 - 44,414,745UniSTSGRCh37
Build 36644,522,462 - 44,522,723RGDNCBI36
Celera645,967,539 - 45,967,800RGD
Cytogenetic Map6p21UniSTS
HuRef644,136,993 - 44,137,254UniSTS
GeneMap99-GB4 RH Map6170.36UniSTS
Whitehead-RH Map6263.6UniSTS
A001V05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,594 - 44,414,735UniSTSGRCh37
Build 36644,522,572 - 44,522,713RGDNCBI36
Celera645,967,649 - 45,967,790RGD
Cytogenetic Map6p21UniSTS
HuRef644,137,103 - 44,137,244UniSTS
GeneMap99-GB4 RH Map6170.36UniSTS
NCBI RH Map6682.8UniSTS
G19678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,594 - 44,414,735UniSTSGRCh37
Build 36644,522,572 - 44,522,713RGDNCBI36
Celera645,967,649 - 45,967,790RGD
Cytogenetic Map6p21UniSTS
HuRef644,137,103 - 44,137,244UniSTS
EST15C11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,545 - 44,414,752UniSTSGRCh37
Build 36644,522,523 - 44,522,730RGDNCBI36
Celera645,967,600 - 45,967,807RGD
HuRef644,137,054 - 44,137,261UniSTS
MARC_15357-15358:1017682310:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,360,489 - 44,361,278UniSTSGRCh37
Build 36644,468,467 - 44,469,256RGDNCBI36
Celera645,913,600 - 45,914,389RGD
HuRef644,083,040 - 44,083,829UniSTS
D7S2067E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map6p21.1-p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map5q33.3UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY518540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG187521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG497404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM829346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D85423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC422730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U86753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000371477   ⟹   ENSP00000360532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,387,706 - 44,450,425 (+)Ensembl
Ensembl Acc Id: ENST00000862194   ⟹   ENSP00000532253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,387,692 - 44,449,149 (+)Ensembl
Ensembl Acc Id: ENST00000862195   ⟹   ENSP00000532254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,387,565 - 44,447,043 (+)Ensembl
Ensembl Acc Id: ENST00000862196   ⟹   ENSP00000532255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,387,710 - 44,447,039 (+)Ensembl
Ensembl Acc Id: ENST00000918588   ⟹   ENSP00000588647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,387,706 - 44,447,039 (+)Ensembl
Ensembl Acc Id: ENST00000918589   ⟹   ENSP00000588648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,387,710 - 44,447,039 (+)Ensembl
Ensembl Acc Id: ENST00000965044   ⟹   ENSP00000635103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl644,387,565 - 44,447,042 (+)Ensembl
RefSeq Acc Id: NM_001253   ⟹   NP_001244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38644,387,706 - 44,450,425 (+)NCBI
GRCh37644,355,251 - 44,418,161 (+)NCBI
Build 36644,463,280 - 44,522,758 (+)NCBI Archive
HuRef644,077,869 - 44,140,670 (+)NCBI
CHM1_1644,358,890 - 44,421,686 (+)NCBI
T2T-CHM13v2.0644,222,452 - 44,285,059 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419605   ⟹   XP_047275561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38644,398,809 - 44,450,425 (+)NCBI
RefSeq Acc Id: XM_054356904   ⟹   XP_054212879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0644,233,438 - 44,285,059 (+)NCBI
RefSeq Acc Id: NP_001244   ⟸   NM_001253
- UniProtKB: Q76N46 (UniProtKB/Swiss-Prot),   Q99974 (UniProtKB/Swiss-Prot),   Q99459 (UniProtKB/Swiss-Prot),   B3KY60 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000360532   ⟸   ENST00000371477
RefSeq Acc Id: XP_047275561   ⟸   XM_047419605
- Peptide Label: isoform X1
- UniProtKB: B4DSH1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212879   ⟸   XM_054356904
- Peptide Label: isoform X1
- UniProtKB: B4DSH1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000532254   ⟸   ENST00000862195
Ensembl Acc Id: ENSP00000635103   ⟸   ENST00000965044
Ensembl Acc Id: ENSP00000532253   ⟸   ENST00000862194
Ensembl Acc Id: ENSP00000588647   ⟸   ENST00000918588
Ensembl Acc Id: ENSP00000532255   ⟸   ENST00000862196
Ensembl Acc Id: ENSP00000588648   ⟸   ENST00000918589
Protein Domains
HTH myb-type   Myb-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99459-F1-model_v2 AlphaFold Q99459 1-802 view protein structure

Promoters
RGD ID:7208217
Promoter ID:EPDNEW_H9855
Type:initiation region
Name:CDC5L_1
Description:cell division cycle 5 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38644,387,710 - 44,387,770EPDNEW
RGD ID:6850700
Promoter ID:EP73144
Type:multiple initiation site
Name:HS_CDC5L
Description:CDC5 cell division cycle 5-like (S. pombe).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36644,463,415 - 44,463,475EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1743 AgrOrtholog
COSMIC CDC5L COSMIC
Ensembl Genes ENSG00000096401 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371477 ENTREZGENE
  ENST00000371477.4 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000096401 GTEx
HGNC ID HGNC:1743 ENTREZGENE
Human Proteome Map CDC5L Human Proteome Map
InterPro CDC5L/Cef1 UniProtKB/Swiss-Prot
  Cdc5p/Cef1 UniProtKB/Swiss-Prot
  Homeobox-like_sf UniProtKB/Swiss-Prot
  Myb_dom UniProtKB/Swiss-Prot
  SANT/Myb UniProtKB/Swiss-Prot
  SANT_CDC5L_II UniProtKB/Swiss-Prot
KEGG Report hsa:988 UniProtKB/Swiss-Prot
NCBI Gene 988 ENTREZGENE
OMIM 602868 OMIM
PANTHER CELL DIVISION CYCLE 5-LIKE PROTEIN UniProtKB/Swiss-Prot
  CELL DIVISION CYCLE 5-LIKE PROTEIN UniProtKB/Swiss-Prot
Pfam Myb_Cef UniProtKB/Swiss-Prot
  Myb_DNA-bind_6 UniProtKB/Swiss-Prot
PharmGKB PA26270 PharmGKB
PROSITE HTH_MYB UniProtKB/Swiss-Prot
SMART SANT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt B3KY60 ENTREZGENE, UniProtKB/TrEMBL
  B4DSH1 ENTREZGENE, UniProtKB/TrEMBL
  CDC5L_HUMAN UniProtKB/Swiss-Prot
  Q76N46 ENTREZGENE
  Q99459 ENTREZGENE
  Q99974 ENTREZGENE
UniProt Secondary Q76N46 UniProtKB/Swiss-Prot
  Q99974 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 CDC5L  cell division cycle 5 like  CDC5L  cell division cycle 5-like  Symbol and/or name change 5135510 APPROVED
2013-01-22 CDC5L  cell division cycle 5-like  CDC5L  CDC5 cell division cycle 5-like (S. pombe)  Symbol and/or name change 5135510 APPROVED